The invention relates to methods of detecting a genetic variation in a genetic sample from a subject using labeled probes and counting the number of labels in the probes.

The invention relates to methods of detecting a genetic variation in a genetic sample from a subject using labeled probes and counting the number of labels in the probes.

Methods for designing and producing a fluorescent-labeled detection probe and a competitive probe combination are provided to improve detection by reducing noise. A method for designing the fluorescent-labeled detection probe and a competitive probe combination includes, for example, determining the base length and the base sequence of each of the fluorescent-labeled detection probe and the competitive probe. The determining can include experimentally determining the amount to be added to the nucleic acid sample of each of the fluorescent-labeled detection probe and the competitive probe. The methods provide a functional result of a first order derivative curve for the control target reaction sample having a substantial peak (maximum value), but a first order derivative curve for the control non-target reaction sample not having a substantial peak, the functional result improving detection by reducing noise.

Methods for designing and producing a fluorescent-labeled detection probe and a competitive probe combination are provided to improve detection by reducing noise. A method for designing the fluorescent-labeled detection probe and a competitive probe combination includes, for example, determining the base length and the base sequence of each of the fluorescent-labeled detection probe and the competitive probe. The determining can include experimentally determining the amount to be added to the nucleic acid sample of each of the fluorescent-labeled detection probe and the competitive probe. The methods provide a functional result of a first order derivative curve for the control target reaction sample having a substantial peak (maximum value), but a first order derivative curve for the control non-target reaction sample not having a substantial peak, the functional result improving detection by reducing noise.

Kits for detecting a mutated target base sequence are provided. For example, the kits can be for detecting a target base sequence (A) containing a nucleotide with a mutated base from a nucleic acid sample. The kits contain a fluorescent-labeled detection probe and a competitive probe combination that is to improve detection by reducing noise. The probe combination is produced using a process that includes, for example, determining the base length and the base sequence of each of the fluorescent-labeled detection probe and the competitive probe. The determining can include experimentally determining the amount to be added to the nucleic acid sample of each of the fluorescent-labeled detection probe and the competitive probe. The kits provide a functional result of a first order derivative curve for the control target reaction sample having a substantial peak (maximum value), but a first order derivative curve for the control non-target reaction sample not having a substantial peak, the functional result improving detection by reducing noise.

Kits for detecting a mutated target base sequence are provided. For example, the kits can be for detecting a target base sequence (A) containing a nucleotide with a mutated base from a nucleic acid sample. The kits contain a fluorescent-labeled detection probe and a competitive probe combination that is to improve detection by reducing noise. The probe combination is produced using a process that includes, for example, determining the base length and the base sequence of each of the fluorescent-labeled detection probe and the competitive probe. The determining can include experimentally determining the amount to be added to the nucleic acid sample of each of the fluorescent-labeled detection probe and the competitive probe. The kits provide a functional result of a first order derivative curve for the control target reaction sample having a substantial peak (maximum value), but a first order derivative curve for the control non-target reaction sample not having a substantial peak, the functional result improving detection by reducing noise.

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

The present invention relates to primers for isothermal amplification, in particular primers for loop-mediated isothermal amplification (LAMP). Also disclosed are methods for identifying a target nucleic acid, and methods for identifying a nucleic acid modification or substitution of a target nucleic acid. The invention finds utility in the diagnosis of diseases or disorders.

The present invention relates to primers for isothermal amplification, in particular primers for loop-mediated isothermal amplification (LAMP). Also disclosed are methods for identifying a target nucleic acid, and methods for identifying a nucleic acid modification or substitution of a target nucleic acid. The invention finds utility in the diagnosis of diseases or disorders.